This is a 14-year-old patient with mental retardation, convulsive syndrome and spastic quadriparesis of five months duration.
Perinatal history included intrauterine growth retardation, oligohydramnios and low birth weight for gestational age.
Regarding the phenotypic characteristics, allopathic plaques and a white hair mattress were observed in the right frontal region.
Magnetic resonance imaging showed multiple calcifications, white matter damage and cystic lesions.
